Commit Graph
50 Commits
Author SHA1 Message Date
kemalandClaude Opus 5.5 9149ef328a Apply the brand across the repo: reports, README, guide
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* simurg/core/brand.py: single source of the mark geometry, colours, favicon
  and the report header band (scripts/brand now load it from there).
* HTML reports (QC report, compare dashboard, methylation QC): offline SVG
  favicon, indigo header band with the mark, version and a sha256 of the data
  shown; Noto Sans font stack; methylation plots in Okabe-Ito colours.
* README banner, guide logo, brand/blog links; branding brief updated to the
  final identity; Noto (OFL) and Okabe-Ito entries in THIRD_PARTY_NOTICES;
  CHANGELOG (Unreleased).

Unit tests + P5 QC oracle: 285 passed; ruff and mypy clean.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-30 08:01:30 +01:00
kemalandClaude Opus 5.5 2753983285 branding: SimurgArray brand kit (mark, wordmark, lockups, icons, templates, guide)
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Frontal dotted simurg on a bead grid: gold body and wings, three-dot crown,
red / gold / green channel plumes with peacock eyes. Detailed (31x27), simple
(11x10) and micro (7x7) drawings; dark, light, gold, black, white versions;
outlined Noto Sans wordmark; favicon and app icons; README banner, social
preview, avatar, featured-image template, report corner mark, CLI banner.
Checks: WCAG contrast table, protan/deutan simulation, icon sizes, family
sheet. Blog featured images regenerated with the new mark for consistency.
Geometry shared in scripts/brand/simurg_mark.py.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-30 07:51:52 +01:00
kemalandClaude Opus 5.5 d73efad5d5 blog: featured images (1200x630, ~90 KB) and a branding brief
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Dotted simurg on a bead grid in the channel colors (red/green, gold bird,
indigo), one motif per post; generated by scripts/blog/make_featured_images.py.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-30 07:22:20 +01:00
kemalandClaude Opus 5.5 f347090a2f ArrayTrain (plan §12): simurg train — EGT cluster files from a cohort's GTCs
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- simurg/train/clusters.py: vectorised per-locus θ mixture (AA/AB/BB + outlier component, θ-ordered bounds),
  cluster selection and merging, lone clusters homozygous, missing clusters imputed by cross-locus regression
  per assay type, cluster_sep and train (GenTrain-field) scores.
- formats/egt.py: write_egt (EGT v3, data block 9, round-trips through the reader).
- pipeline/train.py: normalised θ/R from GTC raw X/Y + transforms, sex-aware (X females, Y males, MT haploid),
  intensity-only loci as one R cluster.
- scripts/train/concordance_chr.py: array vs 1000G 30x on one chromosome.
Demo (36 GSA v4 PGx arrays, chr22 vs 1000G): trained 99.29 % / NRD 2.6 % vs vendor EGT 99.57 % / 1.55 %.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-29 19:53:53 +01:00
kemalandClaude Opus 5.5 83654ddaef PGx validation on GSE165845: WGS-derived star truth, 2-fold masks, array-resolvable concordance
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- scripts/pgx/wgs_star_truth.py: star alleles from the 1000G 30x phased panel with the DB definitions
  (wildcard-aware haplotype assignment; checked against GeT-RM on the demo CEPH individuals).
- validate_star_getrm.py: --all-genes, --individuals, --coverage (projection onto what the array can see);
  replicate_concordance.py.
- 120 individuals x 3 GSA v1 arrays: array-resolvable 1637/1710 (95.7 %), top 1223/1800 (chip lacks many
  defining variants), GeT-RM subset 28/35, replicates 99.2 % without the failed array (V2_pgx_star.md, K-029).

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-29 19:00:34 +01:00
kemalandClaude Opus 5.5 aee8caa39e PGx: ClinPGx variant-based genes (PGX-008) and --guideline dpwg (PGX-025)
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- fetch_sources.sh downloads ClinPGx clinicalVariants (CC BY-SA 4.0); pgx db build adds genotype-only
  variant-based genes (levels 1A-2B, level 3 for the parity list), rsIDs resolved from the manifest's probes:
  70 genes in the DB.
- pgx phenotype --guideline dpwg: CPIC mappings for CPIC genes (as ClinPGx curates DPWG), no phenotype for
  DPWG-only genes (flags dpwg_via_cpic_mapping / dpwg_mapping_not_available). K-029 updated.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-29 17:01:36 +01:00
kemalandClaude Opus 5.5 4176ef33de PGx: PharmVar genes (CYP1A2, CYP2A6, CYP2A13, CYP2C8, CYP3A4), CYP2A6 *4 from CN (PGX-001/006)
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fetch_sources.sh downloads PharmVar per-gene zips; pgx db build adds core alleles for genes CPIC does not
define (normalised against the FASTA, *1 = reference). Masks re-derived with the new variants. GeT-RM:
CYP3A4 15/15, CYP2A6 7/9; all comparable genes 154/168 (CYP1A2/CYP2C8 definitions differ from GeT-RM's).

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-29 16:50:27 +01:00
kemalandClaude Opus 5.5 1428535e91 PGx: CYP2D6 structures from sub-region CN — *68+*4, *36+*10, *13 (PGX-013/018)
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Sub-region CNs (p5, intron 2, exon 9) resolve full copies and *36/*68/*13 units; candidates carry the
tandem names, background alleles, and CPIC activity sums. GeT-RM: CYP2D6 13/15 top (NA12878 *3/*68+*4 and
NA11832 *1/*68+*4 exact), 15/15 within feasible; all genes 132/144.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-29 16:29:54 +01:00
kemalandClaude Opus 5.5 58dbd8f514 PGx: all CPIC gene kinds — G6PD, variant-based, HLA tags, *0 CN genes (PGX-006/007/021)
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- DB build resolves the PGX-007 tag variants from the manifest's probes; coverage over all gene kinds.
- Variant-based genes reported per variant (rs.. REF/ALT | Reference) with the CPIC lowest-activity diplotype;
  tagging genes as positive/negative with the population caveat; GSTM1/GSTT1/UGT2B17 *0 from targeted CN.
- Case-insensitive phenotype keys (MT-RNR1). GeT-RM check extended to VKORC1 and the CN genes:
  131/144 gene calls (docs/validation/V2_pgx_star.md).

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-29 16:24:33 +01:00
kemalandClaude Opus 5.5 ef1a608ee8 derive_masks: keep pysam's downloaded tabix indexes in data/pgx/cache, not the working directory
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Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-29 16:00:25 +01:00
kemalandClaude Opus 5.5 d91c8ea576 PGx star alleles: pgx star-allele call (PGX-011..021), probe masks vs 1000G, GeT-RM validation (K-029)
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- simurg/pgx/star.py: solver-free diplotype enumeration incl. CN forms (deletion, xN), wildcards, array-equivalence
  classes, raw_score/score with CPIC frequency priors; calibrated error model (spec PGX-012 amended).
- pipeline/pgx_star.py: DB gene models, SNV + PGx CN VCF evidence, masks, diplotype_summary.tsv + pgx_calls.json.
- scripts/pgx: derive_masks.py (array vs 1000G 30x over HTTPS, GS calibration), getrm_truth.py,
  validate_star_getrm.py.
- GSA v4 PGx demo vs GeT-RM (16 CEPH): 100/109 gene calls; CYP2D6/2C19/2C9 41/45 (docs/validation/V2_pgx_star.md).

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-29 14:08:03 +01:00
kemalandClaude Opus 5.5 bf9fdaa2f3 PGx DB: pgx db build from CPIC (PGX-001..005, IN-053, CLI-035)
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- scripts/pgx/fetch_sources.sh: CPIC API tables (CC0) into a dated folder with version and hashes.
- simurg/pgx/db.py: CPIC HGVS locations and values -> left-normalised VCF variants (SNV, del, ins, dup,
  repeats, delins, chrM); IUPAC values are core-allele wildcards; alleles without definitions are flagged.
- pipeline/pgx_db.py: deterministic SQLite (content-hash name), probe_map via the SNV VCF site mapper;
  GSA v4 PGx: 22 genes, 1354 alleles, 5002 probe links; two builds byte-identical.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-29 13:24:54 +01:00
kemalandClaude Opus 5.5 58e70bc894 PGx CN: pgx copy-number train|call (CLI-031/032, PCN-001..017, IN-050), region BED v1, demo identities (K-028)
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- simurg/pgx/cn.py: per-region CN mixture, mu_c = delta + gamma*log2((c+1)/3), free lower CN-0 component,
  Hardy-Weinberg-constrained weights over haplotype copy numbers, EM from a grid of label starts.
- pipeline/pgx_cn.py: model file (.simurg-pgxcn), batch rules (PCN-004), per-sample CN VCF + tbi, batch and
  sample summaries.
- The GSA v4 PGx demo arrays are 30 CEPH/1000G individuals (scripts/pgx/demo36_identity.tsv); against NYGC 30x
  SV RD_CN 224/240 region calls agree (GSTM1, UGT2B17 30/30), in-sample (docs/validation/V2_pgx_cn.md).

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-29 13:16:19 +01:00
kemalandClaude Opus 5.5 8c425182c3 V2 CN: CYTO-042 results (precision up, mosaic calls halved); pi_run reports process memory without page cache
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Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-29 12:20:40 +01:00
kemalandClaude Opus 5.5 f1a30aa104 cn_validate_truth: sensitivity by carrier frequency (rare < 5 % is the primary metric, K-027)
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Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-29 11:57:58 +01:00
kemalandClaude Opus 5.5 19bc6ca986 CN: noise-corrected BAF split and complete-loss MF (CYTO-041); Pi tuning harness
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Mosaic fraction from the BAF split now subtracts the heterozygous BAF noise (median |BAF-0.5| of unsplit
hets = 0.6745 sigma_b), and a mosaic loss lacking its expected heterozygotes gets MF 1 and is promoted to a
constitutional DEL (CYTO-020). Adds scripts/v2/cn_tune.sh + cn_tune_report.py (GSE165845 rounds on the Pi).

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-29 10:30:12 +01:00
kemalandClaude Opus 5.5 8ab8e632b9 pi_run: hard per-job memory cap via a systemd scope (MemoryMax) when the memory cgroup is enabled
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The Pi now boots with cgroup_enable=memory cgroup_memory=1; the MemAvailable guard stays as a
second layer and as the fallback on systems without the memory controller.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-29 08:24:29 +01:00
kemalandClaude Opus 5.5 46be8f7ffd CN: per-probe heterozygous BAF spread from the batch reference; --mosaic-prior/--switch-distance; Pi memory guard
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scripts/pi_run.sh runs heavy jobs in their own process group and stops them when
MemAvailable drops below a floor (Raspberry Pi OS boots with cgroup_disable=memory, so a
systemd MemoryMax cap is not available); a 360-sample genotype run with cohort QC had
exhausted memory and the OOM killer took down the desktop session.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-29 07:56:12 +01:00
kemalandClaude Opus 5.5 07a4caff51 v2 CN: real-data validation vs NYGC 30x SVs (interim), noise gate on normalised LRR (K-027)
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GSE165845 360 arrays: constitutional DEL/DUP calls 77/74 % in the NYGC SV truth, LOH
reproduced across replicates 74 %; mosaic calls are mostly false positives (12-23 %),
sensitivity for 25 kb-1 Mb events 7-13 % at QUAL >= 20. All samples had been flagged
SampleQuality by the summary logr_dev (cluster-file mismatch); the gate now uses the SD
of the LRR after the batch reference. Validation script: --ignore-filter.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-29 07:42:06 +01:00
kemalandClaude Opus 5.5 a528ad3549 v2 CN: truth validation script (NYGC 30x SV freeze V3) and cloud task cnv
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Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-29 01:39:49 +01:00
kemalandClaude Opus 5.5 29c5fbb215 v2 CN: cn annotate (JSON report, ISCN 2020, cytobands, genes) and the annotation bundle builder
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cn call now records per-chromosome and sample statistics (percent het, LRR stats, BAF
deviations, robust LogR dev, call rate) in the sidecar; cn annotate writes
<sample>.cyto.json (CYTO-033) with ISCN microarray/traditional strings (CYTO-034), bands
and RefSeq gene lists (CYTO-035), LOH summaries, weighted median CN (CYTO-026); annotation
bundle from UCSC cytoBand + ncbiRefSeq (CYTO-036, IN-054). Tests for ISCN strings, gene
overlap, sidecar-missing error and an end-to-end call+annotate.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-29 01:37:56 +01:00
kemalandClaude Opus 5.5 88f41314b8 v2 CN: synthetic implant evaluation (CYTO-022); reference GTC discovery follows symlinks
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216 implanted events in 22 synthetic GSA samples (4 replicates per kind x fraction x
size; reference model from 30 other samples): constitutional DEL/DUP 16/16 at 5-20 Mb,
mosaic loss/gain/CN-LOH at 15 % / 5 Mb 12/12.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-29 01:30:07 +01:00
kemalandClaude Opus 5.5 86050ef2fc methylation: combine_neg option; oracle compares both background variants and logs sesame's negative controls
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Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-29 00:36:44 +01:00
kemalandClaude Opus 5.5 916e2589fa sesame oracle: compare without bead-count masking on both sides
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Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-29 00:29:25 +01:00
kemalandClaude Opus 5.5 beaf24cfd1 sesame oracle: cache EPIC annotation up front
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Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-29 00:23:24 +01:00
kemalandClaude Opus 5.5 12503fbc33 sesame oracle: explicit platform, cache fallback
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Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-29 00:18:17 +01:00
kemalandClaude Opus 5.5 2c503d2742 v2 methylation: sesame oracle scripts and cloud task
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Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-29 00:14:18 +01:00
kemalandClaude Opus 5.5 bc93e00318 CLI: a closed stdout pipe exits 141 silently (was E_INTERNAL); example avoids head under pipefail
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Found by the P10 fresh-VM run: `simurg inspect … | head` raised BrokenPipeError, reported as
an internal error, and stopped examples/gsa_demo.sh (set -o pipefail). run_guarded now flushes
stdout inside the guard and maps BrokenPipeError to ExitCode.SIGPIPE (141) without a message.
p10.sh: SKIP_DOCKER/SKIP_CONDA, clearer digest report; p10t.sh runs build+pip+tutorial only.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 23:14:47 +01:00
kemalandClaude Opus 5.5 92416397fe P10 (WIP): release build script, Dockerfile, conda recipes, fresh-VM acceptance task
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scripts/build_dist.sh: sdist + pure wheel + manylinux_2_28 kernel wheels (maturin --zig,
both architectures). Dockerfile (multi-stage, kernels included, non-root user).
packaging/conda/{simurg,simurg-core}. scripts/p10/digest.py: platform-independent content
digests of GTC/VCF/summary outputs. Cloud task p10 installs the artifacts on a fresh
Ubuntu VM and runs the tutorial with pip, Docker and conda installs. trial.sh picks the
arm64/amd64 image from the instance type and can run instances in parallel (PARALLEL=1).
Licence files ship in both wheels; Rust crate notices added.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 22:41:56 +01:00
kemalandClaude Opus 5.5 bd19450364 P9: scaling on a RAM disk (bench --work/--clean, cloud task p9b)
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Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 22:04:10 +01:00
kemalandClaude Opus 5.5 c97aac1a5a P9 cloud task: install gcc (linker for the Rust build); guide: kernel installation
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Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 21:35:42 +01:00
kemalandClaude Opus 5.5 5bdd41b048 P9 (WIP): compiled kernels (rust/simurg-core, PyO3) with bit-identical pure-Python fallback
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Rust ports of the hot paths found by profiling: fused per-locus GenCall calling
and scoring, BAF/LRR, libm maps with CPython math semantics, both nearest-neighbour
searches of the normalization fit, and the BPM LocusEntry parser. Address
coverage is memoised per IDAT layout. SIMURG_PURE_PYTHON=1 forces the pure paths.
On the Pi: genotype_sample 3.4 s -> 1.1 s, 36-sample GSA run 131 s -> 46 s, BPM
read 4x faster; 36 GSA + 6 Omni2.5 GTCs and QC tables byte-identical to the pure
path; tests/unit/test_core_kernels.py checks every kernel on edge cases.
bench/profile_genotype.py, bench/scaling.py, cloud task p9 (thread scaling).

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 21:28:55 +01:00
kemalandClaude Opus 5.5 9f36f6443b P8 cloud task: stream NYGC VCFs through bcftools instead of downloading
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The download-only phase (EBI ~15 MB/s) left the CPU idle long enough for the
idle alarm to terminate the first run. Streams are now cut to the manifest
positions (±100 bp) and the 120 individuals while genotyping runs.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 19:06:36 +01:00
kemalandClaude Opus 5.5 60a7ae5ada cloud: optional AZ for spot launches
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Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 17:44:26 +01:00
kemalandClaude Opus 5.5 70c36446a0 P8: GSE165845 validation scripts (prepare, §16.5 metrics) and cloud task
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scripts/p8/prepare.py lays out the 360 GEO IDATs under their header barcode/position;
scripts/p8/validate_p8.py computes concordance, NRD, no-call rate, per-class and per-MAF
sensitivity/specificity/precision/F1 vs NYGC 30x and GIAB HG001, replicate concordance,
systematic/allele-swap site errors, per-chip batch table and duplicate detection.
Cloud userdata can skip the Omni2.5 archive (OMNI=0).

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 17:43:31 +01:00
kemalandClaude Opus 5.5 cd86681742 P7: differential-testing harness (simurg compare) and nightly run on the Pi
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- compare/core: EXACT/NEAR/DISCREPANCY/UNKNOWN with the plan §16.3 tolerances (abs, float32 ULP), NaN = NaN,
  locus classes (assay, variant type, chromosome group, intensity-only); fields absent on both sides are
  not applicable
- compare/records: GTC vs GTC (per-locus arrays, transforms per bin, controls, sample statistics; metadata
  listed, not counted) and VCF vs VCF (records keyed incl. ID; SNV/MNV/indel, merged, multi-allelic classes)
- simurg compare A B (files or folders paired by name): summary.json, discrepancies.tsv.gz (never truncated),
  self-contained dashboard.html; --tolerance, --fail-on-discrepancy (exit 3)
- scripts/nightly.py + install_nightly.sh (crontab 02:30): unit tests, GSA vs gtc2vcf (GTC + VCF), VCF
  regression vs golden, Omni2.5 subset vs vendor GTCs; first run PASS on every step
- tests/unit/test_compare.py; docs/validation/P7.md, README

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 17:00:37 +01:00
kemalandClaude Opus 5.5 63bb40c4e5 P6 validated against GTCtoVCF too: zero unexplained genotype differences
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- GTCtoVCF (Apache-2.0, 36 GSA samples, merged sites): 23.66 M identical calls; every difference named
  (intensity-only probes merged by the oracle, its opposite-strand indel bug EDGE-012, normalisation-based
  grouping, OUT-018 ploidy); indel representations identical, including 144 gtc2vcf cannot resolve
- validate_p6_vcf.py: rule-based categories (--bpm for [I/D]/[D/I] detection)
- docs: validation P6 complete, README status

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 13:20:44 +01:00
kemalandClaude Opus 5.5 b56fdebaaf P6: gtc-to-vcf (VCF/BCF + indexes), harmonisation, exports (plink, bedgraph, finalreport)
- formats/fasta: plain/BGZF FASTA, .fai/.gzi built identical to htslib, index check, build detection,
  contig aliases, mmap genome cache (IN-060..064)
- formats/bgzf, formats/bcf: pure-Python BGZF, tabix .tbi, BCF 2.2 and CSI (OUT-010, OUT-038, OUT-040)
- harmonize/sites: plus-strand mapping with audit rows, indel resolution from SourceSeq (port of GTCtoVCF,
  Apache-2.0) and left normalisation (OUT-014..021, OUT-030, OUT-042)
- harmonize/combine: OUT-031 genotype combination (ploidy-aware, Infinium I/II signal classes, OUT-037)
- pipeline/vcf: `simurg gtc-to-vcf` (per-sample VCF.gz+tbi, --merge cohort BCF+csi, audit parquet)
- pipeline/export: `simurg export bedgraph|finalreport|plink|locus-summary` (OUT-043, OUT-050..052, OUT-071)
- validation: 36 GSA samples vs gtc2vcf: 23.66 M identical calls, 0 unexplained differences; PLINK identical
  to plink2 on 637,397 variants; bcftools validates VCF/BCF and our indexes answer region queries correctly
- fetch_data.sh p6 (Ensembl GRCh38 with checksum), make_oracle_vcf.sh, validate_p6_vcf.py; K-022/K-023

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 12:17:53 +01:00
kemalandClaude Opus 5.5 56d250c621 P5: cloud task for cohort QC validation; configurable gp3 throughput; batched contamination map
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- scripts/cloud/tasks/p5.sh: P4 preset re-check, genotype (v5) with QC, validate_p5_large.py
- scripts/validate_p5_large.py: identify samples via het pattern vs 1000G VCF; sex, parent-offspring,
  Mendel, contamination/control distributions
- trial.sh: DISK_MBPS / DISK_IOPS
- qc/contamination: bounded map batches (executor.map submits eagerly)

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 09:10:02 +01:00
kemalandClaude Opus 5.5 0c004f6398 P5a: QC — control metrics, thresholds, status, contamination, relatedness, locus summary
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- qc/controls: canonical control names (QC-002), bkg/offset (QC-003), 13 genotyping metrics (QC-004/005),
  missing/zero-divisor handling (QC-007/008); controls_raw.tsv / controls_qc.tsv (QC-009/011) incl. compat CSVs
- qc/thresholds + profiles: YAML schema, validation codes, precedence, shipped profiles, auto (QC-020..025)
- qc/status: functional PASS/FAIL/NA, control CLEAR/FLAGGED, flags (QC-030..033)
- qc/contamination: BAF regression; bit-compatible with gtc2vcf BAFregress (36/36, K-017), exact mode too
- qc/relatedness: KING-robust, duplicates, Mendelian errors, pedigree from sheet (IN-018)
- qc/locus_summary: OUT-072, bit-identical to BeadArrayFiles except ChiTest (K-018)
- qc/suggest: suggest-thresholds (QC-026)
- pipeline/qc: disk-backed cohort store; CLI qc controls|samples|contamination|relatedness|loci|suggest-thresholds
- genotype: control tables (OUT-070), het_rate, QC columns, cohort QC
- tests: unit + oracle (BAFregress plugin, BeadArrayFiles locus summary)

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 08:35:10 +01:00
kemalandClaude Opus 5.5 8b1e5d8dab P4 validated on 2141 vendor GTCs; legacy AutoCall 1.6.2 preset
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- vendor comparison (1000 Genomes Omni2.5, AutoCall 1.6.2.2): every
  computed field identical in 2138/2141 samples; the 3 others trace back
  to the single-locus raw-intensity rule (K-009); sex rule 1 matches all
- AutoCall 1.6.2.x leaves GC10/GC50/#calls/#no-calls at 0 in GTC v3:
  new `--preset autocall-1.6.2` (1.1.2 normalization, sex rule 1, GTC v3,
  legacy statistics); the sample summary keeps the real statistics
- NaN sign canonicalised to the x86 pattern (K-014); report P4.md

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 01:21:49 +01:00
kemalandClaude Opus 5.5 eb19ac7f91 P4: unit tests for calling/BAF/LRR/sex/CLI; vendor validation script
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- tests/unit/test_genotype.py: fuzzy memberships incl. NaN rules, calls
  at cluster centres, intensity threshold, BAF/LRR interpolation and
  NaN pattern, LogR-dev locus set, sex rules v1/v2, TOP-strand base
  calls, invariant dates, end-to-end `simurg genotype` (summary schema,
  pass-through columns, thread/layout determinism, overwrite refusal)
- tests/oracle/test_p4_genotype.py: 36 GSA samples x 2 versions
  byte-identical to the oracle
- scripts/validate_p4_large.py + cloud task p4: compare every vendor
  GTC field by field and as whole files; reports which sex rule matches

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 00:10:47 +01:00
kemalandClaude Opus 5.5 268457ba8e P3: vectorised nearest-neighbour search; task-driven cloud trials
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- fit.py: exact and binned nearest-neighbour searches use one distance
  matrix per searched bin (first-minimum rule kept); fit 2.6 s -> 1.4 s
  per GSA sample, still bit-identical to the oracle
- scripts/validate_p3_large.py: refits 1.2.0 and 1.1.2 transforms for
  every vendor GTC and reports ULP distances per field
- cloud trial runs scripts/cloud/tasks/<TASK>.sh (TASK=p3 default;
  p1p2 = previous validation + ingest)

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-27 22:57:03 +01:00
kemalandClaude Opus 5.5 314fdc40d1 P3: normalization fit (1.2.0 and 1.1.2), apply, polar, simurg normalize
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- signal/normalization/numerics.py: vendor percentile, trimmean, MAD sigma
  (old/new), bisquare robust fits, float32/float64 typing and sequential
  sums reproduced exactly (ported from gtc2vcf, MIT)
- signal/normalization/fit.py: outlier removal, offset, rotation, shear,
  scale, nn12/rr12, single-channel model for small Infinium I bins,
  exact and binned nearest-neighbour sweeps; vendor quirks marked QUIRK
- signal/normalization/apply.py: affine transform and theta/R
- pipeline/normalize.py + CLI `simurg normalize`
- oracle GTCs rebuilt with -ffp-contract=off (aarch64 gcc fuses a*b+c by
  default, shifting the last bits); the old FMA oracle differed by <=4 ULP

Result: transforms bit-identical to the oracle for all 36 GSA samples x
48 bins, for both normalization versions (3456/3456 bins, 0 ULP).

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-27 22:51:06 +01:00
kemalandClaude Opus 5.5 2e75345a30 P2 validation: oracle test and large-scale raw X/Y check
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- tests/oracle/test_p2_raw_xy.py: IDAT-assembled raw X/Y and controls
  equal the arrays in oracle GTCs
- validate_p1_large.py: phase-P2 comparison against vendor GTCs with
  diagnostics (channel swap, bead-count disagreements)
- cloud trial: also runs `simurg ingest` on all samples (time/memory),
  disk 250 GB

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-27 20:57:42 +01:00
kemalandClaude Opus 5.5 f52313fc93 cloud trial: set HOME/PATH for cloud-init, unit tests non-fatal
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ci / test (3.13) (push) Failing after 10s
The first run stopped after 1 minute (HOME unbound under set -u) and
terminated itself as designed.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-27 19:36:49 +01:00
kemalandClaude Opus 5.5 150650424c Lint fixes in validate_p1_large.py
ci / test (3.12) (push) Failing after 10s
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Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-27 19:30:37 +01:00
kemalandClaude Opus 5.5 a9aa6dc080 Add self-destructing AWS trial and large-scale P1 validation script
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scripts/cloud/trial.sh launches one spot instance that validates the
parsers on the 1000 Genomes Omni2.5 set (2141 samples, vendor GTCs)
streamed from the public S3 bucket, uploads the summary and terminates
itself. Cost guards: spot price cap, hard time limit (shutdown =
terminate), EXIT-trap shutdown, CloudWatch idle alarm that terminates
from outside, disk deleted with the instance, monthly budget alert, and
an `audit` command listing anything still billable.

scripts/validate_p1_large.py compares every GTC with BeadArrayFiles,
checks byte-identical round-trips, IDAT pairs and BPM/EGT/CSV.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-27 19:30:27 +01:00
kemalandClaude Opus 5.5 f10c651f0f P0: project setup (packaging, CI, licences, data/oracle scripts)
- pyproject (uv/hatch, ruff, mypy strict, pytest markers), MIT LICENSE,
  THIRD_PARTY_NOTICES with verbatim BSD-2 (BeadArrayFiles) and MIT (gtc2vcf)
- CI workflow for Gitea/GitHub Actions: lint, type check, unit tests
- fetch_data.sh p0 now fetches the GSA v4 PGx demo IDATs (the GDA "Demo 36"
  bundle is a GenomeStudio project), unpacks archives, fixes pipefail bug
- make_oracle_gtcs.sh builds bcftools + gtc2vcf and writes oracle GTCs
- plan §17: corrected P0 dataset table

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-27 16:56:39 +01:00
kemalandClaude Opus 5.5 ee4ebaaa1e SimurgArray: master plan, repo scaffolding and data/ref fetch scripts
Phase 0 deliverables: full technical specification and roadmap
(SIMURGARRAY_MASTER_PLAN.md), CLAUDE.md, bootstrap script for reference
open-source repos and tiered dataset fetch script with checksums.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-27 15:20:06 +01:00